ArticleOphthalmology. Retina2018
The genetics of retinopathy of prematurity: a model for neovascular retinal disease.
Article in Ophthalmology. Retina, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Association of ACE and AGTR1 variants with retinopathy of prematurity: a case-control study and meta-analysis.Journal of applied genetics · 2025Pooled it
- Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes.Scientific reports · 2021Trial
- Review
- Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system.Scientific reports · 2025Article
- Pinosylvin: A Multifunctional Stilbenoid with Antimicrobial, Antioxidant, and Anti-Inflammatory Potential.Current issues in molecular biology · 2025Review
- Genetic risk and retinopathy of prematurity: homing in on a target?Pediatric research · 2024Article
- Genome-wide association identifies novel ROP risk loci in a multiethnic cohort.Communications biology · 2024Article
- Article
- Hematologic Risk Factors for the Development of Retinopathy of Prematurity-A Retrospective Study.Children (Basel, Switzerland) · 2023Article
- Potential role of eNOS and EDN-1 gene polymorphisms in the development and progression of retinopathy of prematurity.BMC ophthalmology · 2023Article
- Spectrum of Mutations inFrontiers in genetics · 2022Review
- Decoupling Oxygen Tension From Retinal Vascularization as a New Perspective for Management of Retinopathy of Prematurity. New Opportunities From β-adrenoceptors.Frontiers in pharmacology · 2022Review
- Thrombocytopenia as Type 1 ROP Biomarker: A Longitudinal Study.Journal of personalized medicine · 2021Article
- The Ocular Gene Delivery Landscape.Biomolecules · 2021Review
- Severe retinopathy of prematurity is associated with early post-natal low platelet count.Scientific reports · 2021Article
- Starvation to Glucose Reprograms Development of Neurovascular Unit in Embryonic Retinal Cells.Frontiers in cell and developmental biology · 2021Article
- The vascular endothelial cell-expressed prion protein doppel promotes angiogenesis and blood-brain barrier development.Development (Cambridge, England) · 2020Article
- Current evidence and outcomes for retinopathy of prematurity prevention: insight into novel maternal and placental contributions.Exploration of medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
topicRetinopathy of prematurity (ROP) is a proliferative retinal vascular disease in premature infants, and is a major cause of childhood blindness worldwide. In addition to known clinical risk factors such as low birth weight and gestational age, there is a growing body of evidence supporting a genetic basis for ROP. CLINICAL RELEVANCE: While comorbidities and environmental factors have been identified as contributing to ROP outcomes in premature infants, most notably gestational age and oxygen, some infants progress to severe disease despite absence of these clinical risk factors. The contribution of genetic factors may explain these differences and allow better detection and treatment of infants at risk for severe ROP.
methodsTo comprehensively review genetic factors that potentially contribute to the development and severity of ROP, we conducted a literature search focusing on the genetic basis for ROP. Terms related to other heritable retinal vascular diseases like "familial exudative vitreoretinopathy", as well as to genes implicated in animal models of ROP, were also used to capture research in diseases with similar pathogenesis to ROP in humans with known genetic components.
resultsContributions across several genetic domains are described including vascular endothelial growth factor, the Wnt signaling pathway, insulin-like growth factor 1, inflammatory mediators, and brain-derived neurotrophic factor.
conclusionsMost candidate gene studies of ROP have limitations such as inability to replicate results, conflicting results from various studies, small sample size, and differences in clinical characterization. Additional difficulty arises in separating the contribution of genetic factors like Wnt signaling to ROP and prematurity. Although studies have implicated involvement of multiple signaling pathways in ROP, the genetics of ROP have not been clearly elucidated. Next-generation sequencing and genome-wide association studies have potential to expand future understanding of underlying genetic risk factors and pathophysiology of ROP.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.